ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.875T>C (p.Phe292Ser)

gnomAD frequency: 0.00001  dbSNP: rs2052979739
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001207680 SCV001379043 uncertain significance Familial cancer of breast 2023-05-30 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 938460). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 292 of the CHEK2 protein (p.Phe292Ser).
Baylor Genetics RCV001207680 SCV005058394 uncertain significance Familial cancer of breast 2023-12-27 criteria provided, single submitter clinical testing

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